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Protein

Endoplasmic reticulum lectin 1

Gene

ERLEC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Probable lectin that binds selectively to improperly folded lumenal proteins. May function in endoplasmic reticulum quality control and endoplasmic reticulum-associated degradation (ERAD) of both non-glycosylated proteins and glycoproteins.3 Publications

GO - Molecular functioni

  • unfolded protein binding Source: ParkinsonsUK-UCL

GO - Biological processi

  • ERAD pathway Source: ParkinsonsUK-UCL
  • negative regulation of retrograde protein transport, ER to cytosol Source: ParkinsonsUK-UCL
  • transmembrane transport Source: Reactome
  • ubiquitin-dependent ERAD pathway Source: UniProtKB

Enzyme and pathway databases

ReactomeiR-HSA-382556 ABC-family proteins mediated transport
R-HSA-5358346 Hedgehog ligand biogenesis
R-HSA-5362768 Hh mutants that don't undergo autocatalytic processing are degraded by ERAD
R-HSA-5678895 Defective CFTR causes cystic fibrosis

Names & Taxonomyi

Protein namesi
Recommended name:
Endoplasmic reticulum lectin 1
Alternative name(s):
ER lectin
Short name:
Erlectin
XTP3-transactivated gene B protein
Gene namesi
Name:ERLEC1
Synonyms:C2orf30, XTP3TPB
ORF Names:UNQ1878/PRO4321
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000068912.13
HGNCiHGNC:25222 ERLEC1
MIMi611229 gene
neXtProtiNX_Q96DZ1

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Endoplasmic reticulum

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi207R → A: Abolishes interaction with SEL1L. 1 Publication1
Mutagenesisi379G → S: Abolishes binding to KREMEN2. 1 Publication1
Mutagenesisi428R → A: Abolishes interaction with SEL1L. 1 Publication1

Organism-specific databases

DisGeNETi27248
OpenTargetsiENSG00000068912
PharmGKBiPA165696636

Polymorphism and mutation databases

BioMutaiERLEC1
DMDMi74731510

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 33Sequence analysisAdd BLAST33
ChainiPRO_000004218234 – 483Endoplasmic reticulum lectin 1Add BLAST450

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi195N-linked (GlcNAc...) asparagineSequence analysis1

Post-translational modificationi

Isoform 1 and isoform 2 are N-glycosylated.1 Publication

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ96DZ1
PaxDbiQ96DZ1
PeptideAtlasiQ96DZ1
PRIDEiQ96DZ1
ProteomicsDBi76344
76345 [Q96DZ1-2]

PTM databases

iPTMnetiQ96DZ1
PhosphoSitePlusiQ96DZ1

Expressioni

Gene expression databases

BgeeiENSG00000068912
CleanExiHS_C2orf30
ExpressionAtlasiQ96DZ1 baseline and differential
GenevisibleiQ96DZ1 HS

Organism-specific databases

HPAiHPA031501
HPA031502
HPA031503

Interactioni

Subunit structurei

May form a complex with OS9, HSPA5, SYVN1, and SEL1L with which it interacts directly. Interacts (via PRKCSH 2 domain) with KREMEN2 (when glycosylated). Interacts with HSPA5.3 Publications

GO - Molecular functioni

  • unfolded protein binding Source: ParkinsonsUK-UCL

Protein-protein interaction databases

BioGridi118096, 39 interactors
CORUMiQ96DZ1
IntActiQ96DZ1, 9 interactors
MINTiQ96DZ1
STRINGi9606.ENSP00000185150

Structurei

3D structure databases

ProteinModelPortaliQ96DZ1
SMRiQ96DZ1
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini111 – 180PRKCSH 1Add BLAST70
Domaini342 – 418PRKCSH 2Add BLAST77

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

eggNOGiKOG3394 Eukaryota
ENOG410XR8A LUCA
GeneTreeiENSGT00530000063603
HOGENOMiHOG000047563
InParanoidiQ96DZ1
KOiK14008
OMAiQYHEERE
OrthoDBiEOG091G07NJ
PhylomeDBiQ96DZ1
TreeFamiTF314309

Family and domain databases

Gene3Di2.70.130.10, 2 hits
InterProiView protein in InterPro
IPR009011 Man6P_isomerase_rcpt-bd_dom_sf
IPR012913 OS9-like
PfamiView protein in Pfam
PF07915 PRKCSH, 2 hits

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96DZ1-1) [UniParc]FASTAAdd to basket
Also known as: hXTP3B-long

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MEEGGGGVRS LVPGGPVLLV LCGLLEASGG GRALPQLSDD IPFRVNWPGT
60 70 80 90 100
EFSLPTTGVL YKEDNYVIMT TAHKEKYKCI LPLVTSGDEE EEKDYKGPNP
110 120 130 140 150
RELLEPLFKQ SSCSYRIESY WTYEVCHGKH IRQYHEEKET GQKINIHEYY
160 170 180 190 200
LGNMLAKNLL FEKEREAEEK EKSNEIPTKN IEGQMTPYYP VGMGNGTPCS
210 220 230 240 250
LKQNRPRSST VMYICHPESK HEILSVAEVT TCEYEVVILT PLLCSHPKYR
260 270 280 290 300
FRASPVNDIF CQSLPGSPFK PLTLRQLEQQ EEILRVPFRR NKEEDLQSTK
310 320 330 340 350
EERFPAIHKS IAIGSQPVLT VGTTHISKLT DDQLIKEFLS GSYCFRGGVG
360 370 380 390 400
WWKYEFCYGK HVHQYHEDKD SGKTSVVVGT WNQEEHIEWA KKNTARAYHL
410 420 430 440 450
QDDGTQTVRM VSHFYGNGDI CDITDKPRQV TVKLKCKESD SPHAVTVYML
460 470 480
EPHSCQYILG VESPVICKIL DTADENGLLS LPN
Length:483
Mass (Da):54,858
Last modified:December 1, 2001 - v1
Checksum:i35F78A1468457468
GO
Isoform 2 (identifier: Q96DZ1-2) [UniParc]FASTAAdd to basket
Also known as: hXTP3B-short

The sequence of this isoform differs from the canonical sequence as follows:
     294-347: Missing.

Show »
Length:429
Mass (Da):48,882
Checksum:iCA13F3B6EC4BFC85
GO
Isoform 3 (identifier: Q96DZ1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     410-435: Missing.

Note: Gene prediction based on EST data.
Show »
Length:457
Mass (Da):51,911
Checksum:i0C66CC425B795C40
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti331D → G in BAA91974 (PubMed:14702039).Curated1
Sequence conflicti392K → E in BAA91974 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_051493318V → L. Corresponds to variant dbSNP:rs2287345Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_015790294 – 347Missing in isoform 2. 2 PublicationsAdd BLAST54
Alternative sequenceiVSP_047155410 – 435Missing in isoform 3. CuratedAdd BLAST26

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY453410 mRNA Translation: AAR26725.1
AY358717 mRNA Translation: AAQ89079.1
AK001913 mRNA Translation: BAA91974.1
AK315477 mRNA Translation: BAG37861.1
AC007883 Genomic DNA Translation: AAY24352.1
CH471053 Genomic DNA Translation: EAX00164.1
BC013129 mRNA Translation: AAH13129.1
BC022228 mRNA Translation: AAH22228.1
AF131743 mRNA Translation: AAD20029.1
AF131849 mRNA Translation: AAD20060.1
CCDSiCCDS1848.1 [Q96DZ1-1]
CCDS46283.1 [Q96DZ1-3]
CCDS46284.1 [Q96DZ1-2]
RefSeqiNP_001120869.1, NM_001127397.2 [Q96DZ1-3]
NP_001120870.1, NM_001127398.2 [Q96DZ1-2]
NP_056516.2, NM_015701.4 [Q96DZ1-1]
UniGeneiHs.438336
Hs.713845

Genome annotation databases

EnsembliENST00000185150; ENSP00000185150; ENSG00000068912 [Q96DZ1-1]
ENST00000378239; ENSP00000367485; ENSG00000068912 [Q96DZ1-2]
ENST00000405123; ENSP00000385629; ENSG00000068912 [Q96DZ1-3]
GeneIDi27248
KEGGihsa:27248
UCSCiuc002rxm.4 human [Q96DZ1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiERLEC_HUMAN
AccessioniPrimary (citable) accession number: Q96DZ1
Secondary accession number(s): B2RDB4
, B5MC72, O95901, Q6UWN7, Q9NUY7, Q9UQL4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 27, 2005
Last sequence update: December 1, 2001
Last modified: June 20, 2018
This is version 148 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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